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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Primary Bile Acid Malabsorption
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Accession:DOID:9003880 term browser browse the term
Synonyms:exact_synonym: PBAM
 primary_id: MESH:C567652
For additional species annotation, visit the Alliance of Genome Resources.



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Primary Bile Acid Malabsorption term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc10a2 solute carrier family 10 member 2 ISO ClinVar Annotator: match by term: Bile acid malabsorption, primary
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:19823678 PMID:25741868 PMID:28492532 NCBI chr16:84,386,528...84,409,475
Ensembl chr16:84,374,862...84,409,475
JBrowse link
Primary Bile Acid Malabsorption 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc10a2 solute carrier family 10 member 2 ISO OMIM NCBI chr16:84,386,528...84,409,475
Ensembl chr16:84,374,862...84,409,475
JBrowse link
Primary Bile Acid Malabsorption 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rasl12 RAS-like, family 12 ISO ClinVar Annotator: match by term: BILE ACID MALABSORPTION, PRIMARY, 2 ClinVar PMID:25741868 PMID:28898457 NCBI chr 8:65,917,840...65,931,885
Ensembl chr 8:65,917,840...65,932,741
JBrowse link
G Slc51b solute carrier family 51 subunit beta ISO ClinVar Annotator: match by term: BILE ACID MALABSORPTION, PRIMARY, 2 OMIM
ClinVar
PMID:25741868 PMID:28898457 NCBI chr 8:65,931,891...65,934,893
Ensembl chr 8:65,931,890...65,940,145
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18109
    syndrome 9634
      Malabsorption Syndromes 194
        Steatorrhea 3
          Primary Bile Acid Malabsorption 3
            Primary Bile Acid Malabsorption 1 1
            Primary Bile Acid Malabsorption 2 2
Path 2
Term Annotations click to browse term
  disease 18109
    disease of anatomical entity 17480
      gastrointestinal system disease 6530
        Gastrointestinal Diseases 4665
          intestinal disease 2885
            Malabsorption Syndromes 194
              Steatorrhea 3
                Primary Bile Acid Malabsorption 3
                  Primary Bile Acid Malabsorption 1 1
                  Primary Bile Acid Malabsorption 2 2
paths to the root